Abstract
Autism spectrum disorder (ASD) is common early neurodevelopmental disorder characterized by a varied trajectory and symptoms which affects diagnosis and therapy. For this reason, great diagnostic and therapeutic possibilities are seen in genetic studies. The aim of this review is to discuss the genetic architecture of ASD and possible therapeutic strategies.The patterns of ASD inheritance are discussed, genetic variations (including CNV polymorphisms) and the percentage of the ASD patients divided into specific classes of genetic mutations are indicated. The paper shows the most important three basic models of inheritance: polygenic, oligogenic and main gene. Molecular and cellular mechanisms linked to neurobiological models of ASD are also presented. Genetic research confirms the diversity of genetic factors involved in the ASD formation. Model systems based on the genes of the neurodevelopmental syndrome show the ability to reverse some deficits in adult patients.
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